Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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PTEN / MMAC1 mutation and frequent loss of heterozygosity identified in chromosome 10q in a subset of hepatocellular carcinomas.
PMID 10760687 · PMC5926370 · Japanese journal of cancer research : Gann · 2000 · 8 claims · 3 setups
A subset of HCC tumors show frequent allelic loss (LOH) on chromosome 10q, indicating putative tumor suppressor gene(s) on this arm.
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High frequency of mitochondrial genome instability in human endometrial carcinomas.
PMID 12915881 · PMC2376924 · British journal of cancer · 2003 · 7 claims · 3 setups
56% (28 out of 50) of endometrial carcinoma cases carry one or more somatic mtDNA changes (deletion, point mutation, or mtMSI) compared with matched normal tissue
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Alpha-adducin Gly460Trp polymorphism and essential hypertension in Korea.
PMID 15608390 · PMC2816309 · Journal of Korean medical science · 2004 · 6 claims · 3 setups
The Gly460Trp polymorphism of ADD-1 is not associated with essential hypertension in a Korean population
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Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults.
PMID 15212689 · PMC441379 · BMC medical genetics · 2004 · 8 claims · 3 setups
Arg25Pro heterozygous genotype is significantly less frequent in CLP patients (3.3%) than in healthy controls (16.7%)
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Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes.
PMID 16202172 · PMC1260020 · BMC medical genetics · 2005 · 8 claims · 3 setups
HA-1 allele and genotype frequencies were determined in 131 unrelated Italian subjects (HA-1H=0.43, HA-1R=0.57), consistent with Hardy-Weinberg equilibrium and prior North American Caucasian data.
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MuPlex: multi-objective multiplex PCR assay design.
PMID 15980531 · PMC1160138 · Nucleic acids research · 2005 · 8 claims · 3 setups
MuPlex is a web-enabled system that designs multiplex PCR assays by selecting primer pairs for SNPs and partitioning them into multiplex-compatible tube sets.
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Detection of large deletions in the LDL receptor gene with quantitative PCR methods.
PMID 15842735 · PMC1087844 · BMC medical genetics · 2005 · 7 claims · 3 setups
MLPA was cheaper, more accurate and more precise than Real-Time PCR for detecting LDL receptor gene deletions
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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience.
PMID 16684822 · PMC1865080 · The Journal of clinical endocrinology and metabolism · 2006 · 8 claims · 3 setups
DAX1 mutations are a relatively frequent cause of adrenal failure in 46,XY phenotypic boys with adrenal hypoplasia
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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.
PMID 18036208 · PMC2253505 · BMC medical genetics · 2007 · 7 claims · 3 setups
Improved short, non-overlapping TaqMan MGB probes accurately and simultaneously discriminate the H63D, S65C and C282Y HFE polymorphisms without cross-interference between the closely spaced codon 63/65 SNPs.
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Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage.
PMID 17324265 · PMC1810516 · BMC medical genetics · 2007 · 8 claims · 3 setups
Developed a real-time TaqMan PCR method that quantifies PARK2 exon 1-12 copy number by comparing amplification signal to the β-globin internal control gene
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iMapper: a web application for the automated analysis and mapping of insertional mutagenesis sequence data against Ensembl genomes.
PMID 18974167 · PMC2639305 · Bioinformatics (Oxford, England) · 2008 · 6 claims · 3 setups
iMapper is a web application for automated analysis and mapping of insertional mutagenesis sequence data against vertebrate and invertebrate Ensembl genomes (human, mouse, rat, zebrafish, Drosophila, S. cerevisiae).
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A novel optineurin genetic mutation associated with open-angle glaucoma in a Chinese family.
PMID 19710941 · PMC2730747 · Molecular vision · 2009 · 8 claims · 3 setups
A novel missense mutation A1274G (Lys322Glu) in exon 10 of OPTN was identified in affected members of the family
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Mutation rate at commonly used forensic STR loci: paternity testing experience.
PMID 15665391 · PMC3839336 · Disease markers · 2004 · 8 claims · 2 setups
Microsatellite (STR) loci mutate at a higher rate than bulk genomic DNA, causing interpretation problems in paternity testing.
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Gene expression levels assessed by oligonucleotide microarray analysis and quantitative real-time RT-PCR -- how well do they correlate?
PMID 15854232 · PMC1142514 · BMC genomics · 2005 · 8 claims · 2 setups
Correlations between qRT-PCR and microarray data are generally strong, especially when identical transcripts are targeted by both methods (r = 0.89 for fold-change).
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PrimerStation: a highly specific multiplex genomic PCR primer design server for the human genome.
PMID 16845094 · PMC1538814 · Nucleic acids research · 2006 · 7 claims · 2 setups
Selecting primers using the stringent hybridization ratio (requiring an 'executable temperature' where target hybridization ratio >0.99 and off-target ratio <0.05) yields more specific genomic primers than the conventional melting-temperature-based approach, which only guarantees >0.5 vs <0.5
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Statistical analysis of real-time PCR data.
PMID 16504059 · PMC1395339 · BMC bioinformatics · 2006 · 8 claims · 2 setups
Four statistical models (multiple regression, ANCOVA, t-test, Wilcoxon test) were developed to estimate ΔΔCt with associated significance/confidence intervals
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The role of X-chromosome inactivation in female predisposition to autoimmunity.
PMID 11056674 · PMC17816 · Arthritis research · 2000 · 6 claims · 2 setups
Skewed X-chromosome inactivation in the thymus could lead to inadequate thymic deletion of T cells reactive to X-linked polymorphic self-antigens, predisposing to autoimmunity
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Surfactant protein B gene variations enhance susceptibility to squamous cell carcinoma of the lung in German patients.
PMID 12107845 · PMC2376109 · British journal of cancer · 2002 · 8 claims · 1 setups
The SP-B intron 4 gene variant is significantly more frequent in squamous cell lung carcinoma (SCC) patients (25.0%) than in matched controls, OR=3.2, P=0.016
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Vibrio cholerae pathogenic clones.
PMID 16318732 · PMC3367346 · Emerging infectious diseases · 2005 · 8 claims · 1 setups
The US Gulf clone, the Australian clone, and 3 prepandemic El Tor strains are related to the seventh pandemic clone.
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Glucosidase-beta variations and Lewy body disorders.
PMID 18829375 · PMC2970615 · Parkinsonism & related disorders · 2009 · 8 claims · 1 setups
GBA pathogenic mutations were found in 3% of LBD cases versus 1% of controls, a non-significant difference (OR 3.0, 95% CI 0.3–29, p=0.3)